Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.
By incorporating growth data from childhood, this study construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities in pediatric NF1, and expands the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.